U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LMBRD2 LMBR1 domain containing 2 [ Homo sapiens (human) ]

Gene ID: 92255, updated on 6-Nov-2022

Summary

Official Symbol
LMBRD2provided by HGNC
Official Full Name
LMBR1 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25287
See related
Ensembl:ENSG00000164187 MIM:619490; AllianceGenome:HGNC:25287
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DENBA
Summary
Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 10.2), thyroid (RPKM 6.1) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See LMBRD2 in Genome Data Viewer
Location:
5p13.2
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (36098407..36151887, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36346691..36400181, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36098509..36151989, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene UDP glycosyltransferase family 3 member A1 Neighboring gene UDP glycosyltransferase family 3 member A2 Neighboring gene RNA, U6 small nuclear 1305, pseudogene Neighboring gene microRNA 580 Neighboring gene S-phase kinase associated protein 2 Neighboring gene NAD kinase 2, mitochondrial Neighboring gene NADK2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Developmental delay with variable neurologic and brain abnormalities
MedGen: C5562060 OMIM: 619694 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125692, MGC125693, DKFZp434H2226, DKFZp686G1057

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adrenergic receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in adrenergic receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
G-protein coupled receptor-associated protein LMBRD2
Names
LMBR1 domain-containing protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001007527.2NP_001007528.1  G-protein coupled receptor-associated protein LMBRD2

    See identical proteins and their annotated locations for NP_001007528.1

    Status: VALIDATED

    Source sequence(s)
    AC008942, AK091295, AL137370, BX647340, CR749399
    Consensus CDS
    CCDS34145.1
    UniProtKB/Swiss-Prot
    Q68DH5, Q9NTC7
    Related
    ENSP00000296603.4, ENST00000296603.5
    Conserved Domains (1) summary
    pfam04791
    Location:1549
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    36098407..36151887 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514162.3XP_011512464.1  G-protein coupled receptor-associated protein LMBRD2 isoform X1

    See identical proteins and their annotated locations for XP_011512464.1

    UniProtKB/Swiss-Prot
    Q68DH5, Q9NTC7
    Conserved Domains (1) summary
    pfam04791
    Location:1549
    LMBR1; LMBR1-like membrane protein
  2. XM_047417877.1XP_047273833.1  G-protein coupled receptor-associated protein LMBRD2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    36346691..36400181 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)